Elisabeth Linton, top right, and her husband, Randall, bottom left, will be at Ste-Justine Hospital Wednesday to inaugurate a research laboratory named after their daughter Elisa, centre. The lab will be dedicated to research on Sanfilippo syndrome, the rare childhood disease that Elisa suffered from. Also in this family portrait: her siblings Jessica, top left, and Connor.Courtesy of Linton family

Take your child home and enjoy her every day, doctors told Elisa Linton’s parents.

Elisa, then age 4, was born with Sanfilippo syndrome, a fatal childhood disorder that affects one in 70,000 children. Usually discovered in pre-schoolers, children with the extremely rare condition ultimately lose the ability to walk and talk and eat on their own. Few survive past their teens. Doctors told the Lintons there was nothing more they could do.

“There is no cure and no treatment. We wanted to do something. We couldn’t just sit back and take ‘no’ for an answer,” Elisabeth Linton recalled from her home in Toronto. Grants for research for rare, genetic disorders are difficult to come by. “And there was no research done because there was no money for research.”

Within a year of Elisa’s diagnosis, Linton and her husband, Randall, created the Sanfilippo Children’s Research Foundation to find a cure. Started 19 years ago in their home basement, the foundation has raised more than $7.5 million and funded 35 research projects in six countries.

To make sure such research continues, the foundation is donating $1 million to start the Sanfilippo endowment fund at Ste-Justine Hospital.

On Wednesday, Linton and her husband will be in Montreal to inaugurate the Elisa Linton Sanfilippo research laboratory, a centre entirely dedicated to Sanfilippo research. It will be led by Dr. Alexey Pshezhetsky, the Université de Montréal research professor whose lab discovered a gene mutation for Sanfilippo and similar diseases.

“They were the first to fund me when we were looking for the gene,” Pshezhetsky said of the Lintons’ grant in 2006 that allowed him to conduct preliminary research.

Pshezhetsky was chosen because of his contributions to the advancement of Sanfilippo knowledge worldwide, Linton said. The laboratory named after Elisa will become the Canadian pole for Sanfilippo research.

Named after Sylvester Sanfilippo, the American pediatrician who identified the syndrome in 1963, Sanfilippo belongs to a group of diseases also known as waste storage diseases. The syndrome occurs when the enzymes the body needs to break down certain sugars are absent or defective. The sugar builds up in the cells and in the brain, causing severe damage.

Children with Sanfilippo eventually slip into dementia Pshezhetsky explained.

Sanfilippo affects perhaps 10 families in Canada, so rare that it is known as an orphan disease. However, it shares common ground with other rare genetic disorders known as “lysosomal storage disorders” – for example, Tay-Sachs disease, which affects Ashkenazi Jews and French Canadians of southeastern Quebec. Investigations into one such illness are expected to extend knowledge to others.

Several enzyme and gene replacement therapies are already in the pipeline, Pshezhetsky said. This gift to Ste-Justine will be a tremendous boost for research, he added, and for children suffering from the syndrome.

Pshezhetsky is involved in international trials using gene therapy. Other trials now in Columbia, Ohio, are attempting to correct the enzyme deficiency by using a harmless virus to carry the missing gene into the brain.

“We know it’s working in mice, in mouse models of the disease,” he said. “Hopefully, in two or three years we’ll have something for the patient.”

Other lines of research involve improving communication in brain cells to help compensate for cognitive decline in patients who may not be eligible for gene therapy, he added.

Pshezhetsky said he is happy and grateful to have a laboratory dedicated to Sanfilippo.

“We had a period where funding for such projects was declining, mainly during the Conservative government (years). So the chance to obtain funding for this was below 10 per cent,” he said.

It’s too late to find a cure for her own daughter, Linton said. Elisa died in her sleep last year on Halloween. She was 22.

But it may not be too late for others, she said.

Given the advances in research, parents now have a ray of hope for a disorder that behaves “like a child’s Alzheimer’s disease.”

“We want her legacy to stay alive in Canada,” she said, “so children with Sanfilippo will not have same prognosis.”

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